Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6742 | 20449;20450;20451 | chr2:178727141;178727140;178727139 | chr2:179591868;179591867;179591866 |
| N2AB | 6425 | 19498;19499;19500 | chr2:178727141;178727140;178727139 | chr2:179591868;179591867;179591866 |
| N2A | 5498 | 16717;16718;16719 | chr2:178727141;178727140;178727139 | chr2:179591868;179591867;179591866 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs2079479232  |
None | 0.997 | D | 0.62 | 0.592 | 0.538974603628 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| A/S | rs2079479232 |
None | 0.997 | D | 0.62 | 0.592 | 0.538974603628 | gnomAD-4.0.0 | 2.59887E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.75528E-05 | 0 |
| A/V | rs545490977 |
-0.373 | 0.978 | N | 0.619 | 0.469 | 0.557913522927 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs545490977 |
-0.373 | 0.978 | N | 0.619 | 0.469 | 0.557913522927 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9002 | likely_pathogenic | 0.9151 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/D | 0.9953 | likely_pathogenic | 0.9955 | pathogenic | -2.87 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.638071963 | None | None | N |
| A/E | 0.9894 | likely_pathogenic | 0.9901 | pathogenic | -2.705 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| A/F | 0.9302 | likely_pathogenic | 0.9428 | pathogenic | -0.978 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| A/G | 0.3534 | ambiguous | 0.3661 | ambiguous | -1.901 | Destabilizing | 0.933 | D | 0.625 | neutral | D | 0.596110882 | None | None | N |
| A/H | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/I | 0.6589 | likely_pathogenic | 0.7249 | pathogenic | -0.338 | Destabilizing | 0.866 | D | 0.547 | neutral | None | None | None | None | N |
| A/K | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/L | 0.6143 | likely_pathogenic | 0.6858 | pathogenic | -0.338 | Destabilizing | 0.984 | D | 0.688 | prob.neutral | None | None | None | None | N |
| A/M | 0.8017 | likely_pathogenic | 0.8374 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/N | 0.9888 | likely_pathogenic | 0.9897 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/P | 0.9901 | likely_pathogenic | 0.9913 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.621850798 | None | None | N |
| A/Q | 0.9862 | likely_pathogenic | 0.9879 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/R | 0.9908 | likely_pathogenic | 0.9925 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/S | 0.5073 | ambiguous | 0.481 | ambiguous | -2.25 | Highly Destabilizing | 0.997 | D | 0.62 | neutral | D | 0.592194443 | None | None | N |
| A/T | 0.6198 | likely_pathogenic | 0.6394 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.621245385 | None | None | N |
| A/V | 0.3638 | ambiguous | 0.4076 | ambiguous | -0.676 | Destabilizing | 0.978 | D | 0.619 | neutral | N | 0.495111575 | None | None | N |
| A/W | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/Y | 0.9864 | likely_pathogenic | 0.988 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.